Canonical Allele Identifier: CA6153605

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933391G>A , CM000673.2:g.68933391G>A	GRCh38
NC_000011.9:g.68700859G>A , CM000673.1:g.68700859G>A	GRCh37
NC_000011.8:g.68457435G>A	NCBI36
NG_007976.1:g.34541G>A , LRG_250:g.34541G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1328G>A MANE Select	NP_002171.2:p.Arg443His
ENST00000255078.8:c.1328G>A MANE Select	ENSP00000255078.4:p.Arg443His
NM_002180.2:c.1328G>A , LRG_250t1:c.1328G>A	NP_002171.2:p.Arg443His
ENST00000255078.7:c.1328G>A	ENSP00000255078.3:p.Arg443His
ENST00000536803.1:n.437G>A
ENST00000536803.2:n.239G>A
ENST00000537458.5:n.445G>A
ENST00000539064.5:n.1087G>A
ENST00000543739.5:n.445G>A
ENST00000674955.1:c.*45G>A	ENSP00000502463.1:n.*45G>A
ENST00000675118.1:c.816G>A
ENST00000675205.1:n.93G>A
ENST00000675310.1:n.465G>A
ENST00000675615.1:c.1328G>A	ENSP00000502413.1:p.Arg443His
ENST00000675648.1:n.703G>A
ENST00000675997.1:n.113-1073G>A
ENST00000676149.1:n.402G>A
ENST00000676173.1:n.2073G>A
ENST00000676228.1:c.*651G>A	ENSP00000502375.1:n.*651G>A
XM_005273974.2:c.317G>A	XP_005274031.1:p.Arg106His
XM_005273975.2:c.200G>A	XP_005274032.1:p.Arg67His
XM_005273975.3:c.200G>A	XP_005274032.1:p.Arg67His
XM_011544994.1:c.95G>A	XP_011543296.1:p.Arg32His
XM_017017669.2:c.317G>A	XP_016873158.1:p.Arg106His
XM_017017670.2:c.317G>A	XP_016873159.1:p.Arg106His
XM_017017671.2:c.1328G>A	XP_016873160.1:p.Arg443His
XR_247198.1:n.2131G>A
XR_949903.1:n.1430G>A
XR_949903.3:n.1426G>A